Linked Data
ClinVar Variation Id:
519047
dbSNP Id:
rs1471414348
gnomAD v2:
2-179477578-G-A
gnomAD v3:
2-178612851-G-A
gnomAD v4:
2-178612851-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178612851G>A , CM000664.2:g.178612851G>A | GRCh38 |
| NC_000002.11:g.179477578G>A , CM000664.1:g.179477578G>A | GRCh37 |
| NC_000002.10:g.179185823G>A | NCBI36 |
| NG_011618.3:g.222952C>T , LRG_391:g.222952C>T | |
| NG_051363.1:g.95025G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42166C>T (TTN) | ENSP00000343764.6:p.Arg14056Ter | |
| ENST00000342175.11:c.23251C>T (TTN) | ENSP00000340554.6:p.Arg7751Ter | |
| ENST00000359218.10:c.23050C>T (TTN) | ENSP00000352154.5:p.Arg7684Ter | |
| ENST00000342175.10:c.23251C>T (TTN) | ENSP00000340554.6:p.Arg7751Ter | |
| ENST00000342992.10:c.42166C>T (TTN) | ENSP00000343764.6:p.Arg14056Ter | |
| ENST00000359218.9:c.23050C>T (TTN) | ENSP00000352154.5:p.Arg7684Ter | |
| ENST00000460472.6:c.22675C>T (TTN) | ENSP00000434586.1:p.Arg7559Ter | |
| ENST00000589042.5:c.49870C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg16624Ter | |
| ENST00000591111.5:c.44947C>T (TTN) | ENSP00000465570.1:p.Arg14983Ter | |
| ENST00000615779.4:c.44947C>T (TTN) | ENSP00000483597.1:p.Arg14983Ter | |
| NM_001256850.1:c.44947C>T (TTN) | NP_001243779.1:p.Arg14983Ter | |
| NM_001267550.2:c.49870C>T (TTN) MANE Select | NP_001254479.2:p.Arg16624Ter | |
| NM_003319.4:c.22675C>T (TTN) | NP_003310.4:p.Arg7559Ter | |
| NM_133378.4:c.42166C>T (TTN) | NP_596869.4:p.Arg14056Ter | |
| NM_133432.3:c.23050C>T (TTN) | NP_597676.3:p.Arg7684Ter | |
| NM_133437.4:c.23251C>T (TTN) | NP_597681.4:p.Arg7751Ter | |
| NR_038271.1:n.783-1184G>A (TTN-AS1) | ||
| XM_011511729.1:c.48967C>T (TTN) | XP_011510031.1:p.Arg16323Ter | |
| XM_011511730.1:c.22861C>T (TTN) | XP_011510032.1:p.Arg7621Ter | |
| XM_011511731.1:c.22720C>T (TTN) | XP_011510033.1:p.Arg7574Ter | |
| XM_017004819.1:c.48763C>T (TTN) | XP_016860308.1:p.Arg16255Ter | |
| XM_017004820.1:c.44161C>T (TTN) | XP_016860309.1:p.Arg14721Ter | |
| XM_017004821.1:c.44158C>T (TTN) | XP_016860310.1:p.Arg14720Ter | |
| XM_017004822.1:c.41200C>T (TTN) | XP_016860311.1:p.Arg13734Ter | |
| XM_017004823.1:c.22816C>T (TTN) | XP_016860312.1:p.Arg7606Ter | |
| XM_024453094.1:c.44311C>T (TTN) | XP_024308862.1:p.Arg14771Ter | |
| XM_024453095.1:c.44308C>T (TTN) | XP_024308863.1:p.Arg14770Ter | |
| XM_024453096.1:c.43741C>T (TTN) | XP_024308864.1:p.Arg14581Ter | |
| XM_024453097.1:c.41083C>T (TTN) | XP_024308865.1:p.Arg13695Ter | |
| XM_024453098.1:c.41002C>T (TTN) | XP_024308866.1:p.Arg13668Ter | |
| XM_024453099.1:c.22765C>T (TTN) | XP_024308867.1:p.Arg7589Ter | |
| XM_024453100.1:c.12619C>T (TTN) | XP_024308868.1:p.Arg4207Ter |